MCID: RNL026
MIFTS: 12

Renal Tubular Acidosis with Deafness

Categories: Rare diseases

Aliases & Classifications for Renal Tubular Acidosis with Deafness

MalaCards integrated aliases for Renal Tubular Acidosis with Deafness:

Name: Renal Tubular Acidosis with Deafness 20 43
Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness 20 43
Autosomal Recessive Distal Renal Tubular Acidosis with Deafness 20 43
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 20 43
Renal Tubular Acidosis with Progressive Nerve Deafness 20 43
Rta with Progressive Nerve Deafness 20 43
Renal Tubular Acidosis Type 1b 20 43
Ar Drta with Hearing Loss 20 43
Autosomal Recessive Distal Renal Tubular Acidosis with Hearing Loss 20
Renal Tubular Acidosis Progressive Nerve Deafness 20
Ar Drta with Deafness 43
Ar Drta Wth Deafness 20

Classifications:



Summaries for Renal Tubular Acidosis with Deafness

MedlinePlus Genetics : 43 Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the acids are absorbed back into the bloodstream, and the blood becomes too acidic. This chemical imbalance, called metabolic acidosis, can result in a range of signs and symptoms that vary in severity. Metabolic acidosis often causes nausea, vomiting, and dehydration; affected infants tend to have problems feeding and gaining weight (failure to thrive). Most children and adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones.The metabolic acidosis that occurs in renal tubular acidosis with deafness may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. Rarely, people with renal tubular acidosis with deafness have episodes of hypokalemic paralysis, a condition that causes extreme muscle weakness associated with low levels of potassium in the blood (hypokalemia).In people with renal tubular acidosis with deafness, hearing loss caused by changes in the inner ear (sensorineural hearing loss) usually begins between childhood and young adulthood, and gradually gets worse. An inner ear abnormality affecting both ears occurs in most people with this disorder. This feature, which is called enlarged vestibular aqueduct, can be seen with medical imaging. The vestibular aqueduct is a bony canal that runs from the inner ear into the temporal bone of the skull and toward the brain. The relationship between enlarged vestibular aqueduct and hearing loss is unclear. In renal tubular acidosis with deafness, enlarged vestibular aqueduct typically occurs in individuals whose hearing loss begins in childhood.

MalaCards based summary : Renal Tubular Acidosis with Deafness, also known as renal tubular acidosis, autosomal recessive, with progressive nerve deafness, is related to renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss and distal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis with Deafness is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1). Affiliated tissues include kidney and bone.

GARD : 20 Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight ( failure to thrive ). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.

Related Diseases for Renal Tubular Acidosis with Deafness

Diseases related to Renal Tubular Acidosis with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 11.4
2 distal renal tubular acidosis 11.3
3 branchiootic syndrome 1 10.1
4 renal tubular acidosis 10.1

Symptoms & Phenotypes for Renal Tubular Acidosis with Deafness

Drugs & Therapeutics for Renal Tubular Acidosis with Deafness

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis with Deafness

Genetic Tests for Renal Tubular Acidosis with Deafness

Anatomical Context for Renal Tubular Acidosis with Deafness

MalaCards organs/tissues related to Renal Tubular Acidosis with Deafness:

40
Kidney, Bone

Publications for Renal Tubular Acidosis with Deafness

Articles related to Renal Tubular Acidosis with Deafness:

(showing 2, show less)
# Title Authors PMID Year
1
Genetics of kidney stone disease. 61
32533118 2020
2
Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. 61
5173352 1971

Variations for Renal Tubular Acidosis with Deafness

Expression for Renal Tubular Acidosis with Deafness

Search GEO for disease gene expression data for Renal Tubular Acidosis with Deafness.

Pathways for Renal Tubular Acidosis with Deafness

GO Terms for Renal Tubular Acidosis with Deafness

Sources for Renal Tubular Acidosis with Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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